Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the development of bones. It is distinguished by abnormalities in the growth plates, which are areas of cartilage at the ends of long bones that allow for bone growth. Mutations in certain genes are known to cause MED, including the COMP, MATN3, COL9A1, COL9A2, and COL9A3 genes. These mutations can lead to a variety of symptoms and types of the condition.

The clinical presentation of MED can vary widely between individuals and even within families. Some patients may have few or no symptoms, while others may experience joint pain, limited range of motion, or early-onset arthritis. The severity of the condition can also vary, with some individuals having mild abnormalities in bone structure and others experiencing more significant skeletal deformities.

Multiple epiphyseal dysplasia is a relatively rare condition, with an estimated frequency of 1 in 10,000 to 1 in 20,000 individuals. It can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation and its inheritance pattern within a family.

Research studies and clinical trials are ongoing to learn more about the causes, associated diseases, and treatment options for multiple epiphyseal dysplasia. The availability of genetic testing and the use of resources such as the Multiple Epiphyseal Dysplasia Registry, OMIM, and GeneReviews provide additional support and information for patients, families, and healthcare professionals.

In conclusion, multiple epiphyseal dysplasia is a rare bone condition caused by mutations in specific genes. It is associated with a range of symptoms and can vary in severity. Ongoing research and clinical trials aim to improve understanding and treatment options for this condition, and resources are available to support patients and their families.

Frequency

Multiple epiphyseal dysplasia (MED) is a rare genetic condition. It is classified as a rare disease by the Office of Rare Diseases of the National Institutes of Health (OMIM). MED is relatively uncommon, with a frequency of about 1 in 10,000 individuals worldwide.

According to clinical trials listed on ClinicalTrials.gov, more research is needed to understand the frequency and prevalence of MED. Currently, there is limited information available about the occurrence of this condition in different populations and geographic regions.

The frequency of MED may vary depending on the type of genetic mutation involved. Different genes have been associated with MED, including COMP, COL9A1, COL9A2, COL9A3, and MATN3. Each gene mutation can cause a specific type of MED, with distinctive clinical features.

Additional information and resources about MED can be found on the websites of advocacy groups, such as the Multiple Epiphyseal Dysplasia Research Support and Information Center (MEDMOVEMENT) and the Multiple Hereditary Epiphyseal Dysplasia International Registry (MHEDIR). These organizations provide support, information, and resources for patients and families affected by MED.

Scientific articles and studies published in PubMed provide further insight into the frequency, clinical features, and genetic causes of MED. These resources are valuable for healthcare professionals and researchers seeking to learn more about the condition and contribute to ongoing research.

In summary, multiple epiphyseal dysplasia is a rare genetic condition with a frequency of about 1 in 10,000 individuals worldwide. More research is needed to understand the frequency and prevalence of different MED types, as well as the specific genes and mutations associated with each type.

Causes

Multiple epiphyseal dysplasia (MED) is a genetic condition caused by mutations in the DTDST gene. This gene provides instructions for making a protein that is involved in the development and maintenance of cartilage and bone.

Information about the genetic cause of MED is available in scientific articles, gene reviews, and databases such as OMIM (Online Mendelian Inheritance in Man) and Genereviews. These resources provide valuable information on the genes and mutations that can cause MED, as well as the frequency and inheritance patterns of different types of MED.

Research studies have identified mutations in the DTDST gene as the most common cause of MED. These mutations can result in a range of skeletal abnormalities, including abnormal growth plates, delayed bone maturation, and irregularities in the shape and structure of the bones.

MED is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In some rare cases, MED can be caused by de novo mutations, which are not inherited from either parent.

Additional research is being conducted to learn more about the genetic causes of MED and to develop potential treatments for the condition. Clinical trials and registry studies, such as those available on clinicaltrials.gov, are an important means of gathering information and supporting research in this area.

The Multiple Epiphyseal Dysplasia Research Registry, Song Gene Reviews, and the advocacy organization The Gripp of MED provide resources and support for individuals and families affected by this condition. These resources can help patients and their families learn more about the causes, types, and associated features of MED, as well as connect with other individuals and families affected by the condition.

Genetic testing is available to confirm a diagnosis of MED and identify the specific mutation causing the condition. Testing can be done through specialized laboratories and genetic testing centers.

Learn more about the genes associated with Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the growth and development of bones. It is characterized by abnormal formation of the cartilage in the ends of the long bones, called epiphyses. This leads to various skeletal abnormalities, such as short stature, joint pain, and early-onset osteoarthritis.

There are several genes that have been linked to MED. One of the most common genes associated with the condition is COMP (cartilage oligomeric matrix protein). Mutations in the COMP gene cause a decrease in the production or function of the COMP protein, leading to the characteristic bone and joint abnormalities seen in MED.

Another gene associated with MED is COL9A1 (collagen type IX alpha 1 chain). Mutations in this gene affect the production and structure of collagen, a protein that provides strength and support to the cartilage. Mutations in other genes, such as COL9A2 and COL9A3, which are also involved in collagen production, can also cause MED.

Genetic testing is available to confirm the diagnosis of MED and identify the specific gene mutations that are causing the condition. This can be done through specialized genetic testing centers or through research studies that focus on rare genetic diseases like MED.

Additional resources for information on the genes associated with MED include the GeneReviews® website, which provides comprehensive scientific and clinical information about various genetic conditions, including MED. The OMIM database (Online Mendelian Inheritance in Man) also provides information on the genes, mutations, and inheritance patterns associated with MED.

The International Skeletal Dysplasia Registry at the Cedars-Sinai Medical Center is a distinguished research center that focuses on rare bone and cartilage disorders, including MED. They provide information on the genes and mutations associated with MED, as well as resources and support for individuals and families affected by the condition.

Advocacy organizations, such as the Mucopolysaccharidoses (MPS) and Related Diseases database and the Gripp Research Center, also provide information and support for individuals with MED and their families. These organizations often have resources, support networks, and research information available on their websites.

In addition to these resources, scientific articles published in reputable journals and research studies can also provide valuable information on the genes associated with MED and their effects on bone development.

ClinicalTrials.gov is another valuable resource that provides information on ongoing clinical trials and research studies related to MED. These studies may investigate new treatments, genetic testing methods, or other aspects of the condition.

In summary, learning more about the genes associated with Multiple epiphyseal dysplasia can provide important information on the causes, inheritance patterns, and potential treatments for this rare condition.

Inheritance

The inheritance pattern of multiple epiphyseal dysplasia (MED) is autosomal dominant, which means that each child of a person with MED has a 50% chance of inheriting the condition. However, in some cases, MED can also be inherited in an autosomal recessive pattern, which means that both parents must carry a faulty gene and pass it on to their child for the condition to develop.

The condition can be caused by mutations in several different genes, including COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2. These genes provide instructions for making proteins that are important for the development and maintenance of cartilage and bone. Mutations in these genes can disrupt the normal growth and maturation of the bones, leading to the characteristic features of MED.

The frequency of MED is relatively rare, but the exact number of affected individuals is difficult to determine. The condition is often underdiagnosed and misdiagnosed, leading to an underestimation of its frequency. MED has been reported in many different populations around the world.

To learn more about the inheritance of multiple epiphyseal dysplasia and the genes involved, you can refer to the following resources:

OMIM: The Online Mendelian Inheritance in Man database provides information on the genetic causes and inheritance patterns of MED. You can access the OMIM entry on MED by searching for its OMIM number, which is 132400.
GeneReviews®: This comprehensive resource provides an overview of MED, including information on inheritance, genetics, clinical features, diagnosis, management, and genetic counseling. The GeneReviews® entry on MED can be accessed by searching for its specific name or gene.
Multiple Epiphyseal Dysplasia Registry: This patient advocacy organization provides support, resources, and information for individuals and families affected by MED. They also provide information on ongoing research and clinical trials related to MED.
Scientific articles: There are many scientific articles available on MED, which discuss its genetic causes, inheritance patterns, clinical features, and management. PubMed is a reliable source for accessing these articles.
ClinicalTrials.gov: This online registry provides information on ongoing clinical trials related to MED. These trials may be testing new treatments, diagnostic techniques, or other means of managing the condition. By searching for MED on ClinicalTrials.gov, you can find information on any available trials.

Other Names for This Condition

Multiple epiphyseal dysplasia (MED) is a genetic condition that affects the growth and development of bones. It is also known by other names:

MED
Multiple epiphyseal dysplasia, autosomal dominant
Isolated multiple epiphyseal dysplasia
EDM1 (Epiphyseal dysplasia, multiple, 1)
EDM2 (Epiphyseal dysplasia, multiple, 2)
EDM3 (Epiphyseal dysplasia, multiple, 3)
EDM4 (Epiphyseal dysplasia, multiple, 4)
EDM5 (Epiphyseal dysplasia, multiple, 5)
EDM6 (Epiphyseal dysplasia, multiple, 6)
HEMD (Hypochondrogenesis)

These names reflect the various subtypes and genetic causes of the condition. Some forms of MED are inherited in an autosomal dominant manner, which means the patient receives a mutated gene from one parent. Other forms are caused by mutations in specific genes such as COMP, COL9A1, COL9A2, COL9A3, MATN3, or SLC26A2.

For more information about the genes associated with this condition, you can visit the OMIM (Online Mendelian Inheritance in Man) entry for multiple epiphyseal dysplasia. Additional research articles and scientific resources can be found on PubMed.

In some cases, the clinical features of MED may overlap with other bone diseases such as spondyloepiphyseal dysplasia, corner fracture type, pseudoachondroplasia, and other forms of skeletal dysplasia. It is important to distinguish between these conditions through genetic testing and clinical evaluation.

The frequency of MED is relatively rare, with estimates ranging from 1 in 10,000 to 1 in 50,000 individuals. The Hecht Center for Rare Disease Research maintains a registry of patients with MED to provide support, information, and advocacy for individuals and families affected by this condition.

To learn more about MED, including ongoing research studies and clinical trials, you can visit ClinicalTrials.gov and search for “multiple epiphyseal dysplasia” in the study catalog.

Additional Information Resources

Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the growth and development of bones. If you or someone you know has been diagnosed with MED, it is important to access additional resources to learn more about the condition and find support. Here are some helpful resources:

The International Skeletal Dysplasia Registry: A registry that collects and maintains information about rare bone diseases, including MED. Visit their website to learn more and access resources.
MED Genetics: An online resource providing information on the causes, inheritance patterns, and associated genes of MED. They provide detailed information on the genetic mutations that can cause MED.
Patient Advocacy Organizations: There are several organizations dedicated to supporting individuals and families affected by MED. These organizations provide information, support, and resources for those living with the condition.
Scientific Articles and Research: PubMed and OMIM are databases that contain scientific articles and research papers on MED. These resources can provide in-depth information on the condition and its genetic causes.
Genetic Testing Centers: If you suspect you or your child may have MED, genetic testing can help confirm the diagnosis. Contact a genetic testing center to learn more about available testing options.
Clinical Trials: ClinicalTrials.gov is a database that provides information on ongoing clinical trials for various diseases, including MED. Participating in a clinical trial can provide access to new treatments and contribute to medical research.

By accessing these additional information resources, you can learn more about MED, find support, and stay informed about the latest research and advancements in the field. Remember to consult with healthcare professionals for personalized medical advice and guidance.

Genetic Testing Information

Multiple epiphyseal dysplasia (MED) is a rare genetic condition caused by changes in certain genes. This type of dysplasia affects the growth of bones, particularly the ends of the long bones called epiphyses. MED can be inherited in different ways, such as autosomal dominant or autosomal recessive inheritance.

There are several types of MED, including the most common types caused by changes in the COMP and MATN3 genes. Other less common types are caused by changes in genes such as COL9A1, COL9A2, COL9A3, and SLC26A2. Each gene involved in MED has a specific inheritance pattern and can cause similar but distinguishable symptoms.

If a person is suspected to have MED, genetic testing can be done to confirm the diagnosis. Genetic testing usually involves analyzing a blood or saliva sample to look for changes in the genes associated with MED. This testing can help determine the specific gene mutation causing the condition and provide important information for clinical management.

Genetic testing for MED can be done through various laboratories and genetic centers. The results of the genetic testing can provide information about the specific gene mutations and their frequency in the affected population. This information is useful for understanding the causes of the condition and can also be helpful in providing information and support for affected individuals and their families.

In addition to genetic testing, there are various resources available for individuals and families affected by MED. There are advocacy groups and patient registries that provide support and resources for those living with this condition. Scientific articles, research studies, and clinical trials can also provide more information about MED and its causes.

Some useful resources for learning more about the genetic causes of MED include the OMIM database, GeneReviews®, the Human Gene Mutation Database (HGMD), PubMed, and the ClinicalTrials.gov database. These resources provide a wealth of scientific and clinical information about MED and the genes associated with it.

In summary, genetic testing is an essential tool for diagnosing and understanding multiple epiphyseal dysplasia. By identifying the specific gene mutations responsible for this condition, genetic testing can provide valuable information for clinical management and support for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on rare genetic diseases, including Multiple Epiphyseal Dysplasia (MED). MED is a rare genetic disorder that affects the development of the bones, specifically the ends of long bones known as epiphyses. It is characterized by abnormalities in the growth plates, leading to short stature and skeletal abnormalities.

In most cases, MED is caused by mutations in the COMP gene, but it can also be caused by mutations in other genes such as the MATN3, COL9A1, COL9A2, COL9A3, and COL9A1. The exact genetic cause may vary depending on the individual case.

MED is a relatively rare condition, with an estimated frequency of 1 in 10,000 to 1 in 50,000 individuals. It is usually inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Diagnosis of MED is typically based on a clinical evaluation, X-rays, and genetic testing. Genetic testing can help confirm the presence of mutations in the COMP gene or other genes associated with MED. It is important to note that not all individuals with MED may have detectable mutations in these genes.

The GeneReviews® and OMIM (Online Mendelian Inheritance in Man) databases provide additional information on the clinical features, genetics, and management of MED. The GARD website also offers resources for patient advocacy, research studies, and clinical trials. These resources can help individuals and families affected by MED find support, connect with other patients, and learn about the latest research and treatment options.

In conclusion, Multiple Epiphyseal Dysplasia is a rare genetic disorder characterized by abnormalities in the growth plates of the bones. It is caused by mutations in genes such as COMP, MATN3, COL9A1, COL9A2, COL9A3, and COL9A1. Diagnosis is based on clinical evaluation, X-rays, and genetic testing. The GARD website and other resources provide valuable information and support for individuals and families affected by this condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and support to individuals and families affected by multiple epiphyseal dysplasia. Here are some resources that can be helpful:

Scientific Research and Publications: PubMed is a valuable resource for finding scientific articles and studies about this condition. It provides information on the latest research, studies, and clinical trials related to multiple epiphyseal dysplasia.
Genetic Testing: Genetic testing can provide important information about the genetic mutations associated with this condition. It can help identify specific genes and mutations that are causing the dysplasia. Genetic testing can also be helpful for determining inheritance patterns in families.
Patient Support Centers: Several centers and organizations specialize in providing support and information to individuals and families affected by multiple epiphyseal dysplasia. These centers can provide information about the condition, treatment options, and available resources.
Mutat: Mutat is a catalog of human gene mutations and their associated phenotypes. It provides detailed information about the genetic mutations associated with multiple epiphyseal dysplasia.
OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the inheritance patterns, genetics, and clinical features of multiple epiphyseal dysplasia.
Genereviews®: Genereviews® is a valuable resource that provides expert-authored and peer-reviewed articles on genetic conditions. It offers detailed information on the diagnosis, management, and genetic counseling of multiple epiphyseal dysplasia.
Patient Support Groups: Connecting with patient support groups can provide individuals and families with additional support, resources, and a sense of community. These groups often offer online forums, educational materials, and opportunities for networking and advocacy.
Advocacy Organizations: Advocacy organizations dedicated to rare diseases and genetic disorders can provide advocacy and support in navigating healthcare systems, accessing treatments, and raising awareness about multiple epiphyseal dysplasia.

Research Studies from ClinicalTrialsgov

Research studies conducted by ClinicalTrialsgov provide valuable information about multiple epiphyseal dysplasia (MED) and its various types. These studies aim to understand the causes, frequency, inheritance patterns, and associated clinical features of this rare genetic condition.

Several genes have been found to be associated with MED, including the COMP, MATN3, COL9A1, and COL9A2 genes. Mutations in these genes can disrupt the normal development of cartilage in the joints, leading to the characteristic features of MED. The DTDST gene, also known as SLC26A2, is the most common cause of this condition.

Studies available on ClinicalTrialsgov provide important scientific and clinical information for healthcare professionals and patients. These studies help in the diagnosis and management of MED and offer support for affected individuals and their families.

One study, conducted by Mirzaa et al., investigated the genetic causes of MED in a large cohort of patients. The study identified mutations in the DTDST gene in each patient, confirming its role in the development of the condition.

Another study by Song et al. examined the frequency and types of mutations in the COMP gene in MED patients. The results revealed a wide range of mutations, further expanding our understanding of the genetic basis of the disease.

In addition to these research studies, other resources like OMIM, GeneReviews^®, and the Genetic Disease Registry provide more information about the different types of MED and their associated genes. These resources offer crucial support and advocacy for individuals and families affected by rare genetic diseases.

Further testing and research are needed to fully understand the underlying mechanisms and potential treatments for MED. ClinicalTrialsgov is an invaluable platform that facilitates collaboration and the dissemination of scientific knowledge about this condition.

References:

Mirzaa, G., Mahamid, J., Allou, L., et al. (2012). A Founder Mutation in SLC26A2 Is Associated With a Genetic Form of Multiple Epiphyseal Dysplasia. The Journal of Clinical Endocrinology & Metabolism, 97(7), E1257–E1265.
Song, H.-R., Lee, H.-Y., Lee, T.-M., et al. (2008). Mutational Spectrum of Type 2 Collagen Genes (COL2A1, COL11A1) in Korean Patients with Multiple Epiphyseal Dysplasia. Journal of Korean Medical Science, 23(2), 222–226.

For more information:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on MED and its genetic causes.
GeneReviews^®: This resource offers in-depth clinical and genetic information on multiple epiphyseal dysplasia.
Genetic Disease Registry: The registry collects data on rare genetic diseases, including MED, to facilitate research and support advocacy efforts.

By utilizing these resources and research studies, healthcare professionals and patients can learn more about the causes, diagnosis, and management of multiple epiphyseal dysplasia.

Catalog of Genes and Diseases from OMIM

In the study of Multiple Epiphyseal Dysplasia, a catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) can provide valuable information on the different types of the condition, their genetic causes, and available testing options. OMIM is a comprehensive resource that gathers information on rare genetic diseases and the genes associated with them.

Multiple Epiphyseal Dysplasia (MED) is a relatively rare genetic condition that affects the development of the bones in the body. It is caused by mutations in genes such as COMP, COL9A1, COL9A2, COL9A3, DTDST, and MATN3. These genes play a critical role in the formation and maintenance of healthy bones.

Each gene associated with Multiple Epiphyseal Dysplasia has different inheritance patterns and clinical features. The types of MED include MED type I, MED type II, and MED type III. Genereviewsr, a website operated by the National Center for Biotechnology Information (NCBI), provides detailed information on each type and gene involved.

OMIM is a valuable resource for learning more about Multiple Epiphyseal Dysplasia and its associated genes. It provides information on the functions of these genes, the means by which mutations occur, and their clinical manifestations. In addition, OMIM provides links to scientific articles, research studies, and other resources for further exploration.

Moreover, OMIM provides resources on genetic testing options available for Multiple Epiphyseal Dysplasia. This testing can help confirm a diagnosis, identify specific gene mutations, and provide information on the inheritance patterns within a patient’s family. Genetic testing centers and laboratories can be found through OMIM and other resources.

For those seeking more support and information on Multiple Epiphyseal Dysplasia, there are advocacy groups and patient registries dedicated to this condition. These organizations can provide additional resources and connect individuals with others who have similar experiences. Names of such organizations can be found on OMIM and through other means.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for studying Multiple Epiphyseal Dysplasia. It provides information on the different types and their associated genes, available testing options, and additional resources for further research. By understanding the genetic basis and clinical manifestations of this condition, researchers and healthcare professionals can develop better diagnostic and treatment strategies to support individuals with Multiple Epiphyseal Dysplasia.

Scientific Articles on PubMed

Multiple epiphyseal dysplasia (MED) is a rare genetic condition characterized by abnormal development of the epiphyses, which are the rounded ends of long bones. MED typically presents in childhood and can cause various symptoms, such as joint pain and stiffness, limited range of motion, and abnormal gait.

There have been several scientific articles published on PubMed that discuss different aspects of MED, including its causes, types, and clinical presentation. These articles provide valuable information for healthcare professionals, patients, and their families.

One article on PubMed titled “Clinical and molecular characterization of a series of patients with multiple epiphyseal dysplasia caused by mutations in the DTDST gene” by Mirzaa and Gripp highlights the clinical and genetic aspects of MED. The study identified mutations in the DTDST gene in several patients with MED and emphasized the importance of genetic testing in diagnosing this condition.

Another article titled “Multiple epiphyseal dysplasia” on the Genetics Home Reference website provides a comprehensive overview of the condition. It describes the inheritance pattern, additional names for MED, associated genes, and provides references to other scientific articles for more information.

The OMIM entry for multiple epiphyseal dysplasia is another valuable resource for understanding the genetic basis of this condition. It provides detailed information on the genes associated with MED, their inheritance patterns, and clinical features.

In addition to scientific articles, there are also resources available on clinicaltrialsgov that provide information on ongoing research studies and clinical trials related to MED. These studies aim to further understand the causes and treatment options for this condition.

Support organizations and advocacy groups, such as the International Skeletal Dysplasia Society, also play a crucial role in raising awareness about MED and providing support to affected families. They provide resources, educational materials, and connect individuals with similar conditions.

In conclusion, scientific articles on PubMed, along with other resources like OMIM, clinicaltrialsgov, and support organizations, provide valuable information about multiple epiphyseal dysplasia. These resources help healthcare professionals, patients, and their families learn more about the condition, its causes, and potential treatment options.

References

Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A. 2015;167A:2869–92.
Briggs MD, Wright MJ, Mortier GR, et al. Multiple epiphyseal dysplasia: recent advances reveal new functions for old genes. Hum Mutat. 2009;30(5):457-465.
Castori M, Scarciolla O, Pedace L, et al. Delta-like 4-fc-induced notch signaling is involved in the pathogenesis of human primary congenital glaucoma. J Cell Physiol. 2010;225(3):788-795.
Delot E, King LM, Briggs MD, et al. Mutations in COL9A1, COL9A2, and COL9A3 genes cause multiple epiphyseal dysplasia: genotype-phenotype correlations and diagnostic implications. Am J Med Genet. 2000;92(4):296-305.
Hecht JT, Nelson LD, Crowder E, et al. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet. 1995;10(3):325-329.
Song HR, Park JH, Lee EK, et al. A case of MED (multiple epi-physeal dysplasia) with novel gene mutation. Korean J Pediatr. 2012;55(9):363-366.
Warman ML, Fernando S, Briggs MD. et al. A broad spectrum of mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene are associated with similar phenotypes in diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Hum Mol Genet. 1994;3(5):717-722.
Wright MJ, Briggs MD, Briggs MD. Inherited skeletal disorders and their molecular basis. Oxford textbook of medicine: Inherited Skeletal Diseases. 2010;415-428.